Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.

A 2-year-old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, hypertelorism, strabismus, prominent nasal bridge, stubby nose, pointed chin, undescended testes and hydronephrosis, had a ring chromosome 10. Using high-resolution banding technique, the breakpoints were decided at p15.3 and q26.3 of chromosome 10. The clinical features observed in this case were common in 8 other cases with ring chromosome 10 previously reported. Thus, the terminal deletion of both arms of chromosome 10 seems to be the cause of the specific clinical abnormalities. When a patient has the clinical common abnormalities above mentioned, ring chromosome 10 syndrome will be suspected before chromosome analysis.

Citation

I Kondo, Y Shimakura, T Hirano, M Kaneko, K Yabuta. Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis. Clinical genetics. 1984 Feb;25(2):196-200

Mesh Tags

PMID: 6705254

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